リンチ症候群 - MGenReviews

リンチ症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000251.3(MSH2):c.1176_1177del (p.Lys393fs)	MSH2	Pathogenic	2	47656979	47656980	AAG	A	criteria provided, single submitter	ClinGen:CA658655664
single nucleotide variant	NM_000179.3(MSH6):c.1789G>T (p.Glu597Ter)	MSH6	Pathogenic	2	48026911	48026911	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA346749280
Deletion	NM_000249.4(MLH1):c.71_75del (p.Val24fs)	MLH1	Pathogenic/Likely pathogenic	3	37035109	37035113	GTTATC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655779
single nucleotide variant	NM_000249.4(MLH1):c.753C>G (p.Tyr251Ter)	MLH1	Pathogenic	3	37055998	37055998	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA352044147
single nucleotide variant	NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter)	MLH1	Pathogenic/Likely pathogenic	3	37067386	37067386	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA352053247
single nucleotide variant	NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)	MLH1	Pathogenic/Likely pathogenic	3	37081785	37081785	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA352060789
single nucleotide variant	NM_000535.7(PMS2):c.2275+1G>A	PMS2	Pathogenic	7	6018226	6018226	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA366736386
single nucleotide variant	NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter)	PMS2	Pathogenic	7	6026409	6026409	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366738938
single nucleotide variant	NM_000535.7(PMS2):c.3G>A (p.Met1Ile)	PMS2	Pathogenic	7	6048648	6048648	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA366745251
Deletion	NC_000002.12:g.(?_47403186)_(47410378_?)del	MSH2	Pathogenic	2	47630325	47637517	na	na	criteria provided, single submitter	-